Parkinson's disease;
ubiquitin-carboxy-terminal-hydrolase-L1;
genetics;
allele association study;
polymorphism;
D O I:
10.1016/S0304-3940(00)01510-X
中图分类号:
Q189 [神经科学];
学科分类号:
071006 ;
摘要:
The ubiquitin carboxy-terminal hydrolase L1 gene (UCH-L1) has been implicated in the aetiology of Parkinson's disease (PD). A rare Ile93Met mutation in UCH-L1 in a German PD sib-pair has been reported. Recently, a S18Y(C54A) polymorphism in exon 3 of UCH-L1 was found to be under-represented in PD patients compared to controls. To test the reproducibility of this negative association, we conducted an allele-association study of the S18Y polymorphism in an Australian case-control sample consisting of 142 PD cases and 142 closely matched control subjects. Genotypes were determined using polymerase chain reaction and Rsal restriction enzyme assay. Analysis revealed no difference between PD patients and controls for genotype or allele frequencies of the S18Y polymorphism. The of the S18Y allele in Australian subjects is similar to that reported elsewhere. This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.